Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

Meckel syndrome (MKS) is a lethal disorder characterized by renal cystic dysplasia, encephalocele, polydactyly and biliary dysgenesis. It is highly genetically heterogeneous with nine different genes implicated in this disorder. MKS is thought to be a ciliopathy because of the range of phenotypes an...

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Hauptverfasser: Tammachote, Rachaneekorn, Hommerding, Cynthia J., Sinders, Rachel M., Miller, Caroline A., Czarnecki, Peter G., Leightner, Amanda C., Salisbury, Jeffrey L., Ward, Christopher J., Torres, Vicente E., Gattone, Vincent H., Harris, Peter C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2009
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2733821/
https://ncbi.nlm.nih.gov/pubmed/19515853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp272
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